Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis
HR Waterham, J Christodoulou, RA Wevers, J Pitt – The American Journal of Human …, (2018) David Coman,* Lisenka ELM Vissers, 6, 20 Lisa G. Riley, 7, 8 Michael P. Kwint, 6 Roxanna Hauck, 8 Janet Koster, 9 Sinje Geuer, 6 Sarah Hopkins, 10 Barbra Hallinan …